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773626008: Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (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 Reference Sets
3724869019 Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3724870018 Dinno syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3724872014 Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3724873016 Contractures, webbed neck, micrognathia, hypoplastic nipples syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3724871019 An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Associated morphology Congenital webbing true Inferred relationship Some 4
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Is a Hypoplasia of nipple true Inferred relationship Some
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Is a Congenital micrognathism true Inferred relationship Some
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Is a Neck webbing true Inferred relationship Some
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Is a Arthrogryposis true Inferred relationship Some
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Finding site Skin structure of neck (body structure) true Inferred relationship Some 4
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Finding site Joint structure false Inferred relationship Some 3
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Finding site Nipple structure true Inferred relationship Some 2
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 2
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Finding site Bone structure of mandible true Inferred relationship Some 1
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Associated morphology Contracture true Inferred relationship Some 3
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Finding site Structure of joint region true Inferred relationship Some 3
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 5
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Interprets Range of joint movement true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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