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719944006: Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)


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

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 SNOMED CT core module
3318545013 Trichomegaly with retina pigmentary degeneration and dwarfism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3318546014 Oliver McFarlane syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Ectodermal dysplasia true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Congenital anomaly of hair true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Congenital anomaly of eyelid true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Degeneration of retina true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Short stature disorder true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Hereditary disorder of the integument true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Hereditary disorder of the visual system true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Deformity of eyelid true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 6
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 7
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 5
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier 5
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology Pigmentary degeneration false Inferred relationship Existential restriction modifier 6
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Finding site Retinal structure false Inferred relationship Existential restriction modifier 6
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology Abnormally long growth false Inferred relationship Existential restriction modifier 7
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Finding site Entire eyelashes false Inferred relationship Existential restriction modifier 7
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Finding site Entire eyelashes true Inferred relationship Existential restriction modifier 2
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology Abnormally long growth true Inferred relationship Existential restriction modifier 2
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Congenital anomaly of retina true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier 4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology Pigmentary degeneration true Inferred relationship Existential restriction modifier 3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Finding site Retinal structure true Inferred relationship Existential restriction modifier 3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Congenital deformity of face true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Disorder of hair growth true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Interprets Height / growth measure true Inferred relationship Existential restriction modifier 4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a Congenital deformity of soft tissue true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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