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766813000: Trichoodontoonychial dysplasia (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3662701012 Trichoodontoonychial dysplasia en Synonym Active Case insensitive SNOMED CT core
3662702017 Trichoodontoonychial dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3662703010 Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region en Synonym Active Case insensitive SNOMED CT core
3662704016 A rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. en Definition Active Case sensitive SNOMED CT core
3662705015 A rare ectodermal dysplasia syndrome characterised by severe generalised hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including naevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Trichoodontoonychial dysplasia Pathological process Pathological developmental process true Inferred relationship Some 3
Trichoodontoonychial dysplasia Pathological process Pathological developmental process true Inferred relationship Some 1
Trichoodontoonychial dysplasia Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Trichoodontoonychial dysplasia Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Trichoodontoonychial dysplasia Pathological process Pathological developmental process true Inferred relationship Some 2
Trichoodontoonychial dysplasia Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Trichoodontoonychial dysplasia Pathological process Pathological developmental process true Inferred relationship Some 4
Trichoodontoonychial dysplasia Finding site Nail unit structure true Inferred relationship Some 3
Trichoodontoonychial dysplasia Associated morphology Dysplasia true Inferred relationship Some 4
Trichoodontoonychial dysplasia Is a Genetic disorder of nail true Inferred relationship Some
Trichoodontoonychial dysplasia Finding site Hair structure true Inferred relationship Some 2
Trichoodontoonychial dysplasia Is a Developmental hereditary disorder true Inferred relationship Some
Trichoodontoonychial dysplasia Is a Hereditary disorder of tooth true Inferred relationship Some
Trichoodontoonychial dysplasia Finding site Tooth structure true Inferred relationship Some 1
Trichoodontoonychial dysplasia Is a Digestive system hereditary disorder false Inferred relationship Some
Trichoodontoonychial dysplasia Occurrence Congenital true Inferred relationship Some 2
Trichoodontoonychial dysplasia Occurrence Congenital true Inferred relationship Some 1
Trichoodontoonychial dysplasia Occurrence Congenital true Inferred relationship Some 3
Trichoodontoonychial dysplasia Occurrence Congenital true Inferred relationship Some 4
Trichoodontoonychial dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 4
Trichoodontoonychial dysplasia Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Trichoodontoonychial dysplasia Is a Hereditary disorder of the integument true Inferred relationship Some
Trichoodontoonychial dysplasia Associated morphology Developmental abnormality false Inferred relationship Some 1
Trichoodontoonychial dysplasia Finding site Ectoderm structure true Inferred relationship Some 4
Trichoodontoonychial dysplasia Is a Ectodermal dysplasia with hair-tooth-nail defects true Inferred relationship Some
Trichoodontoonychial dysplasia Is a Congenital anomaly of tooth false Inferred relationship Some
Trichoodontoonychial dysplasia Is a Congenital anomaly of nail false Inferred relationship Some
Trichoodontoonychial dysplasia Finding site Skin structure false Inferred relationship Some 2
Trichoodontoonychial dysplasia Associated morphology Developmental abnormality false Inferred relationship Some 3
Trichoodontoonychial dysplasia Associated morphology Developmental abnormality false Inferred relationship Some 2
Trichoodontoonychial dysplasia Finding site Skin structure false Inferred relationship Some 3
Trichoodontoonychial dysplasia Finding site Nail structure false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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