1363286000: Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Epileptic encephalopathy (disorder)\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epileptic encephalopathy (disorder)\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epileptic encephalopathy (disorder)\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\...
• \Structural abnormality of bone of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Epileptic encephalopathy (disorder)\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epileptic encephalopathy (disorder)\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epileptic encephalopathy (disorder)\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Structural abnormality of bone of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Structural abnormality of bone of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Structural abnormality of bone of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Epileptic encephalopathy (disorder)\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (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\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epileptic encephalopathy (disorder)\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Structural abnormality of bone of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Structural abnormality of bone of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Structural abnormality of bone of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epileptic encephalopathy (disorder)\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Neurodevelopmental delay (disorder)\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Epileptic encephalopathy (disorder)\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Developmental delay\Neurodevelopmental delay (disorder)\Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5448019016	Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5448020010	Mesomelic dysplasia, digital anomalies, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5448021014	A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay and intellectual disability, epileptic encephalopathy, horseshoe or hypoplastic kidney, failure to thrive, hypertrichosis of the limbs and respiratory problems (including apnoea, multicompartmental respiratory disease, intermittent hyperventilation) along with mesomelic dysplasia (Nievergelt/Savarirayan type). Dysmorphic facial features may include microcephaly, synophrys, large nose with prominent nasal tip and low hanging columella, protruding ears, smooth/short philtrum, wide mouth with square upper lip, widely spaced teeth and micrognathia. Strabismus, myopia, cortical visual impairment and hearing loss can also be present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5448022019	A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay and intellectual disability, epileptic encephalopathy, horseshoe or hypoplastic kidney, failure to thrive, hypertrichosis of the limbs and respiratory problems (including apnea, multicompartmental respiratory disease, intermittent hyperventilation) along with mesomelic dysplasia (Nievergelt/Savarirayan type). Dysmorphic facial features may include microcephaly, synophrys, large nose with prominent nasal tip and low hanging columella, protruding ears, smooth/short philtrum, wide mouth with square upper lip, widely spaced teeth and micrognathia. Strabismus, myopia, cortical visual impairment and hearing loss can also be present.	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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