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719944006: Trichomegaly with retina pigmentary degeneration and dwarfism 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
3318544012 Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318545013 Trichomegaly with retina pigmentary degeneration and dwarfism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318546014 Oliver McFarlane syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318547017 This syndrome has characteristics of growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa. Moderate intellectual deficit was also present in the majority of cases. To date, 11 cases have been reported. Transmission is thought to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3909051000052113 Oliver-McFarlanes syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (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
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Ectodermal dysplasia true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Congenital anomaly of hair true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Congenital anomaly of eyelid true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Degeneration of retina true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Deformity of eyelid (disorder) true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Finding site Skin structure false Inferred relationship Some 4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 5
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 5
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Associated morphology Pigmentary degeneration false Inferred relationship Some 6
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Finding site Retinal structure false Inferred relationship Some 6
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Associated morphology Abnormally long growth false Inferred relationship Some 7
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Finding site Entire eyelashes false Inferred relationship Some 7
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Finding site Entire eyelashes true Inferred relationship Some 2
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Associated morphology Abnormally long growth true Inferred relationship Some 2
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Congenital anomaly of retina true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Associated morphology Pigmentary degeneration true Inferred relationship Some 3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Finding site Retinal structure true Inferred relationship Some 3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Congenital deformity of face (disorder) true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Disorder of hair growth true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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