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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
5403683010 A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403684016 A rare multiple congenital anomalies/dysmorphic syndrome characterised by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. 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

Reference Sets

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

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