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8447006: Congenital anomaly of skeletal bone (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14943014 Congenital anomaly of skeletal bone, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
14944015 Congenital skeletal anomaly, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
14945019 Congenital skeletal anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14946018 Anomaly of skeletal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006510017 Congenital malformation of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2164 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal bone Is a Congenital anomaly of musculoskeletal system true Inferred relationship Some
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 1
Congenital anomaly of skeletal bone Is a Disorder of bone (disorder) false Inferred relationship Some
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal bone Is a Congenital connective tissue disorder false Inferred relationship Some
Congenital anomaly of skeletal bone Is a Disorder of bone development (disorder) true Inferred relationship Some
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 1
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of skeletal bone Associated morphology Developmental anomaly false Inferred relationship Some 2
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 2
Congenital anomaly of skeletal bone Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of skeletal bone Finding site Bone structure true Inferred relationship Some 1
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Congenital anomaly of skeletal bone Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone (disorder) Due to True Congenital anomaly of skeletal bone Inferred relationship Some 2
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Rhizomelic dysplasia (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Mesomelic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Familial articular hypermobility syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital bowing of long bone (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital malformation of bone of thorax (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital spondylolysis (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital bowing of bone of lower limb (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal bullet shape of phalanx of foot (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal bullet shape of phalanx of hand (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal cone shape of epiphysis of phalanx of hand (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal cone shape of epiphysis with epiphyseal arrest (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal cone shape of epiphysis of phalanx of toe (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal rhomboid shape of distal phalanx of little finger (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal rhomboid shape of middle phalanx of little finger (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal slender shape of long bone (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal rhomboid shape of proximal phalanx of little finger (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal triangular shape of epiphysis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal triangular shape of phalanx of hand (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal triangular shape of phalanx of toe Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital clinodactyly of distal phalanx of little finger (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal fusion of bones of upper limb (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal broad shape of phalanx (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of bone of extremity (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital dolichostenomelia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of vertebra (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dysplastic cortical hyperostosis (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Abnormally short long bone (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Abnormal tapering of phalanx of foot (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Abnormal tapering of phalanx of finger (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital dysplasia of spine (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of bone of head Is a True Congenital anomaly of skeletal bone Inferred relationship Some
X-linked calvarial hyperostosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some

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