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715484003: Ophthalmomandibulomelic dysplasia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302784019 Ophthalmomandibulomelic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302785018 Ophthalmomandibulomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302786017 Pillay syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302787014 OMM (ophthalmomandibulomelic) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302788016 Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3871861000052116 oftalmomandibulomel dysplasi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ophthalmomandibulomelic dysplasia (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 5
Ophthalmomandibulomelic dysplasia (disorder) Occurrence Congenital false Inferred relationship Some 5
Ophthalmomandibulomelic dysplasia (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Ophthalmomandibulomelic dysplasia (disorder) Is a Hereditary corneal dystrophy true Inferred relationship Some
Ophthalmomandibulomelic dysplasia (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 3
Ophthalmomandibulomelic dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 3
Ophthalmomandibulomelic dysplasia (disorder) Finding site Face structure false Inferred relationship Some 3
Ophthalmomandibulomelic dysplasia (disorder) Finding site Limb structure true Inferred relationship Some 3
Ophthalmomandibulomelic dysplasia (disorder) Associated morphology Dystrophy false Inferred relationship Some 4
Ophthalmomandibulomelic dysplasia (disorder) Finding site Corneal structure false Inferred relationship Some 4
Ophthalmomandibulomelic dysplasia (disorder) Finding site Limb structure false Inferred relationship Some 5
Ophthalmomandibulomelic dysplasia (disorder) Finding site Face structure true Inferred relationship Some 2
Ophthalmomandibulomelic dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ophthalmomandibulomelic dysplasia (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Ophthalmomandibulomelic dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 2
Ophthalmomandibulomelic dysplasia (disorder) Is a Congenital anomaly of cornea false Inferred relationship Some
Ophthalmomandibulomelic dysplasia (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Ophthalmomandibulomelic dysplasia (disorder) Finding site Corneal structure true Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ophthalmomandibulomelic dysplasia (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Ophthalmomandibulomelic dysplasia (disorder) Is a Congenital dystrophy of cornea (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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