403767009: Acrocephalopolysyndactyly type II (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\...
• \Genetic obesity disorder (disorder)\Genetic childhood obesity disorder\Genetic syndromic childhood obesity\Acrocephalopolysyndactyly type II (disorder)
• \Childhood obesity (disorder)\Genetic childhood obesity disorder\Genetic syndromic childhood obesity\Acrocephalopolysyndactyly type II (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\...
• \Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Syndactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Polydactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocephalopolysyndactyly type II (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Genetic disease\Genetic obesity disorder (disorder)\Genetic childhood obesity disorder\Genetic syndromic childhood obesity\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Genetic disease\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Obesity (disorder)\Genetic obesity disorder (disorder)\Genetic childhood obesity disorder\Genetic syndromic childhood obesity\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Obesity (disorder)\Childhood obesity (disorder)\Genetic childhood obesity disorder\Genetic syndromic childhood obesity\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Acrocephalopolysyndactyly\Acrocephalopolysyndactyly type II (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1771693010	Acrocephalopolysyndactyly type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1782777015	Acrocephalopolysyndactyly type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1787862010	Summitt syndrome	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3494870015	Carpenter syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3494871016	Acrocephalopolysyndactyly type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499894017	A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5449174012	A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5449175013	A rare syndromic craniosynostosis with variable phenotypic expression characterised by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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