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763620003: Trichodermodysplasia and dental alterations syndrome (disorder)

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
5404115018 Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by 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, café-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
5404116017 Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterised by 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, café-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
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
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
5404115018 Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by 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, café-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
5404116017 Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterised by 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, café-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
3423981001000118 Trichodermodysplasie mit Zahnveränderungen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968271000172119 syndrome de Pinheiro-Freire-Maia-Miranda fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
973411000172111 syndrome tricho-dermo-dentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968271000172119 syndrome de Pinheiro-Freire-Maia-Miranda fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
973411000172111 syndrome tricho-dermo-dentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423981001000118 Trichodermodysplasie mit Zahnveränderungen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Trichodermodysplasia and dental alterations syndrome Is a Ectodermal dysplasia with hair-nail defect false Inferred relationship Existential restriction modifier (core metadata concept)
Trichodermodysplasia and dental alterations syndrome Is a Congenital anomaly of tooth (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Trichodermodysplasia and dental alterations syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Trichodermodysplasia and dental alterations syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Trichodermodysplasia and dental alterations syndrome Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Trichodermodysplasia and dental alterations syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Trichodermodysplasia and dental alterations syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichodermodysplasia and dental alterations syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Trichodermodysplasia and dental alterations syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodermodysplasia and dental alterations syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Trichodermodysplasia and dental alterations syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodermodysplasia and dental alterations syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichodermodysplasia and dental alterations syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Trichodermodysplasia and dental alterations syndrome Finding site Nail structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichodermodysplasia and dental alterations syndrome Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Trichodermodysplasia and dental alterations syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodermodysplasia and dental alterations syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichodermodysplasia and dental alterations syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichodermodysplasia and dental alterations syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodermodysplasia and dental alterations syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Trichodermodysplasia and dental alterations syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Trichodermodysplasia and dental alterations syndrome Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodermodysplasia and dental alterations syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Trichodermodysplasia and dental alterations syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodermodysplasia and dental alterations syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichodermodysplasia and dental alterations syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Trichodermodysplasia and dental alterations syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Trichodermodysplasia and dental alterations syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Trichodermodysplasia and dental alterations syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodermodysplasia and dental alterations syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Trichodermodysplasia and dental alterations syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Trichodermodysplasia and dental alterations syndrome Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Trichodermodysplasia and dental alterations syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodermodysplasia and dental alterations syndrome Is a Tooth eruption disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Trichodermodysplasia and dental alterations syndrome Is a Partial congenital absence of teeth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Trichodermodysplasia and dental alterations syndrome Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichodermodysplasia and dental alterations syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichodermodysplasia and dental alterations syndrome Associated morphology Congenital abnormal number false Inferred relationship Existential restriction modifier (core metadata concept) 5
Trichodermodysplasia and dental alterations syndrome Interprets Eruption of tooth true Inferred relationship Existential restriction modifier (core metadata concept) 6
Trichodermodysplasia and dental alterations syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 6
Trichodermodysplasia and dental alterations syndrome Associated morphology Abnormal number (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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