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773278003: Familial osteodysplasia Anderson type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3722864013 Familial osteodysplasia Anderson type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3722865014 Familial osteodysplasia Anderson type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3722866010 A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3722867018 A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricaemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3722864013 Familial osteodysplasia Anderson type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3722865014 Familial osteodysplasia Anderson type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3722866010 A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3722867018 A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricaemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3419691001000116 Osteodysplasie, familiäre, Typ Anderson de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
918191000172111 ostéodysplasie familiale type Anderson fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
918191000172111 ostéodysplasie familiale type Anderson fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3419691001000116 Osteodysplasie, familiäre, Typ Anderson de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial osteodysplasia Anderson type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial osteodysplasia Anderson type Is a Osteodysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
Familial osteodysplasia Anderson type Is a Familial disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial osteodysplasia Anderson type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial osteodysplasia Anderson type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial osteodysplasia Anderson type Is a Lesion of face true Inferred relationship Existential restriction modifier (core metadata concept)
Familial osteodysplasia Anderson type Is a Congenital anomaly of face bones true Inferred relationship Existential restriction modifier (core metadata concept)
Familial osteodysplasia Anderson type Is a Congenital anomaly of skull true Inferred relationship Existential restriction modifier (core metadata concept)
Familial osteodysplasia Anderson type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial osteodysplasia Anderson type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial osteodysplasia Anderson type Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial osteodysplasia Anderson type Finding site Bone structure of face false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial osteodysplasia Anderson type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial osteodysplasia Anderson type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial osteodysplasia Anderson type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial osteodysplasia Anderson type Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Familial osteodysplasia Anderson type Finding site Bone structure of cranium true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial osteodysplasia Anderson type Finding site Bone structure of face true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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