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1172633003: Camptodactyly syndrome Guadalajara type 3 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4634891012 Camptodactyly syndrome Guadalajara type 3 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4634892017 Camptodactyly syndrome Guadalajara type 3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4634893010 A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4635743012 A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple naevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age. 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
Camptodactyly syndrome Guadalajara type 3 (disorder) Is a Camptodactyly of finger (disorder) true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 3 (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 3 (disorder) Is a Congenital anomaly of neck true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 3 (disorder) Is a Genetic disease true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 3 (disorder) Occurrence Congenital true Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 3 (disorder) Finding site Neck structure true Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 3 (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 3 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 3 (disorder) Occurrence Congenital true Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 (disorder) Finding site Face structure true Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 (disorder) Occurrence Congenital true Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 3 (disorder) Finding site Musculoskeletal structure of finger true Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 3 (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 3 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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