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733034007: Charlie M syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498614014 Charlie M syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498615010 Charlie M syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5072051019 A rare bone developmental disorder belonging to a group of oromandibular limb hypogenesis syndromes. The major anomalies occurring commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Charlie M syndrome (disorder) Is a Hypertelorism true Inferred relationship Some
Charlie M syndrome (disorder) Is a Oromandibular-limb hypogenesis spectrum true Inferred relationship Some
Charlie M syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Charlie M syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Charlie M syndrome (disorder) Finding site Structure of internal part of mouth true Inferred relationship Some 4
Charlie M syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Charlie M syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Charlie M syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 6
Charlie M syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Charlie M syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 7
Charlie M syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Charlie M syndrome (disorder) Finding site Structure of internal part of mouth false Inferred relationship Some 5
Charlie M syndrome (disorder) Finding site Sphenoid bone structure false Inferred relationship Some 4
Charlie M syndrome (disorder) Finding site Limb structure false Inferred relationship Some 7
Charlie M syndrome (disorder) Finding site Bone structure of mandible false Inferred relationship Some 6
Charlie M syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Charlie M syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Charlie M syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Charlie M syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Charlie M syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Charlie M syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Charlie M syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Charlie M syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Charlie M syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Charlie M syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Charlie M syndrome (disorder) Finding site Limb structure true Inferred relationship Some 1
Charlie M syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Charlie M syndrome (disorder) Finding site Bone structure of mandible true Inferred relationship Some 2
Charlie M syndrome (disorder) Finding site Sphenoid bone structure true Inferred relationship Some 3
Charlie M syndrome (disorder) Finding site Face structure false Inferred relationship Some 5
Charlie M syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 5
Charlie M syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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