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763620003: syndroom van trichodermodysplasie en dentale veranderingen (aandoening)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643051014 Pinheiro, Freire Maia, Miranda syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643054018 Trichodermodysplasia and dental alterations syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643055017 Trichodermodysplasia and dental alterations syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
8217421000146119 syndroom van trichodermodysplasie en dentale veranderingen (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8217431000146117 syndroom van trichodermodysplasie en dentale veranderingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3657270018 A rare genetic ectodermal dysplasia syndrome with characteristics of sparse, thin brittle scalp hair as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafe au lait spots on back, mild dystrophy of nails and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. 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
Trichodermodysplasia and dental alterations syndrome Is a Ectodermal dysplasia with hair-tooth-nail defects true Inferred relationship Some
Trichodermodysplasia and dental alterations syndrome Is a Ectodermal dysplasia with hair-nail defect false Inferred relationship Some
Trichodermodysplasia and dental alterations syndrome Is a Congenital anomaly of tooth (disorder) false Inferred relationship Some
Trichodermodysplasia and dental alterations syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Trichodermodysplasia and dental alterations syndrome Occurrence Congenital true Inferred relationship Some 5
Trichodermodysplasia and dental alterations syndrome Finding site Tooth structure true Inferred relationship Some 5
Trichodermodysplasia and dental alterations syndrome Finding site Skin structure false Inferred relationship Some 5
Trichodermodysplasia and dental alterations syndrome Occurrence Congenital true Inferred relationship Some 4
Trichodermodysplasia and dental alterations syndrome Occurrence Congenital true Inferred relationship Some 2
Trichodermodysplasia and dental alterations syndrome Finding site Ectoderm structure true Inferred relationship Some 3
Trichodermodysplasia and dental alterations syndrome Occurrence Congenital true Inferred relationship Some 1
Trichodermodysplasia and dental alterations syndrome Occurrence Congenital true Inferred relationship Some 3
Trichodermodysplasia and dental alterations syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Trichodermodysplasia and dental alterations syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 1
Trichodermodysplasia and dental alterations syndrome Finding site structuur van unguis (lichaamsstructuur) false Inferred relationship Some 4
Trichodermodysplasia and dental alterations syndrome Finding site Hair structure (body structure) true Inferred relationship Some 1
Trichodermodysplasia and dental alterations syndrome Finding site Skin structure false Inferred relationship Some 3
Trichodermodysplasia and dental alterations syndrome Finding site Ectoderm structure false Inferred relationship Some 4
Trichodermodysplasia and dental alterations syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 4
Trichodermodysplasia and dental alterations syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Trichodermodysplasia and dental alterations syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
Trichodermodysplasia and dental alterations syndrome Finding site Ectoderm structure false Inferred relationship Some 2
Trichodermodysplasia and dental alterations syndrome Finding site Tooth structure false Inferred relationship Some 3
Trichodermodysplasia and dental alterations syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Trichodermodysplasia and dental alterations syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 3
Trichodermodysplasia and dental alterations syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Trichodermodysplasia and dental alterations syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 5
Trichodermodysplasia and dental alterations syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Trichodermodysplasia and dental alterations syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Trichodermodysplasia and dental alterations syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Trichodermodysplasia and dental alterations syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Trichodermodysplasia and dental alterations syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Trichodermodysplasia and dental alterations syndrome Finding site Nail unit structure true Inferred relationship Some 2
Trichodermodysplasia and dental alterations syndrome Associated morphology Dysplasia true Inferred relationship Some 3
Trichodermodysplasia and dental alterations syndrome Is a Tooth eruption disorder (disorder) true Inferred relationship Some
Trichodermodysplasia and dental alterations syndrome Is a Partial congenital absence of teeth true Inferred relationship Some
Trichodermodysplasia and dental alterations syndrome Finding site Tooth structure true Inferred relationship Some 4
Trichodermodysplasia and dental alterations syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 4
Trichodermodysplasia and dental alterations syndrome Associated morphology congenitaal afwijkend aantal false Inferred relationship Some 5
Trichodermodysplasia and dental alterations syndrome Interprets Eruption of tooth true Inferred relationship Some 6
Trichodermodysplasia and dental alterations syndrome Has interpretation Abnormal true Inferred relationship Some 6
Trichodermodysplasia and dental alterations syndrome Associated morphology Abnormal number (morphologic abnormality) true Inferred relationship Some 5
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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