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722061006: Oculoosteocutaneous syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3330427016 Oculoosteocutaneous syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330428014 Oculoosteocutaneous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402809017 A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402810010 A rare multiple congenital anomalies/dysmorphic syndrome characterised by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968. 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
Oculoosteocutaneous syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Oculoosteocutaneous syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Oculoosteocutaneous syndrome (disorder) Finding site Skin structure false Inferred relationship Some 3
Oculoosteocutaneous syndrome (disorder) Finding site Skin structure false Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Oculoosteocutaneous syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculoosteocutaneous syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Oculoosteocutaneous syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Oculoosteocutaneous syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Oculoosteocutaneous syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Oculoosteocutaneous syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Oculoosteocutaneous syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 3
Oculoosteocutaneous syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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