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763828007: Odonto onycho dysplasia with alopecia 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
3644143019 Odonto onycho dysplasia with alopecia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644144013 Odonto onycho dysplasia with alopecia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644146010 Odonto-onycho dysplasia alopecia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404226018 Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404227010 Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterised by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. 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
Odonto onycho dysplasia with alopecia syndrome Is a Congenital alopecia true Inferred relationship Some
Odonto onycho dysplasia with alopecia syndrome Is a Ectodermal dysplasia with hair-tooth-nail defects true Inferred relationship Some
Odonto onycho dysplasia with alopecia syndrome Is a Ectodermal dysplasia with hair-nail defect false Inferred relationship Some
Odonto onycho dysplasia with alopecia syndrome Is a Congenital anomaly of tooth (disorder) false Inferred relationship Some
Odonto onycho dysplasia with alopecia syndrome Occurrence Congenital true Inferred relationship Some 5
Odonto onycho dysplasia with alopecia syndrome Associated morphology Developmental anomaly false Inferred relationship Some 5
Odonto onycho dysplasia with alopecia syndrome Finding site Tooth structure true Inferred relationship Some 5
Odonto onycho dysplasia with alopecia syndrome Finding site Skin structure false Inferred relationship Some 5
Odonto onycho dysplasia with alopecia syndrome Occurrence Congenital true Inferred relationship Some 2
Odonto onycho dysplasia with alopecia syndrome Occurrence Congenital true Inferred relationship Some 1
Odonto onycho dysplasia with alopecia syndrome Occurrence Congenital false Inferred relationship Some 3
Odonto onycho dysplasia with alopecia syndrome Finding site Ectoderm structure true Inferred relationship Some 4
Odonto onycho dysplasia with alopecia syndrome Occurrence Congenital true Inferred relationship Some 4
Odonto onycho dysplasia with alopecia syndrome Associated morphology Developmental anomaly false Inferred relationship Some 4
Odonto onycho dysplasia with alopecia syndrome Finding site Tooth structure false Inferred relationship Some 4
Odonto onycho dysplasia with alopecia syndrome Finding site Nail structure false Inferred relationship Some 1
Odonto onycho dysplasia with alopecia syndrome Associated morphology Developmental anomaly false Inferred relationship Some 1
Odonto onycho dysplasia with alopecia syndrome Finding site Skin structure false Inferred relationship Some 4
Odonto onycho dysplasia with alopecia syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Odonto onycho dysplasia with alopecia syndrome Finding site Hair structure (body structure) true Inferred relationship Some 2
Odonto onycho dysplasia with alopecia syndrome Finding site Ectoderm structure false Inferred relationship Some 3
Odonto onycho dysplasia with alopecia syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 3
Odonto onycho dysplasia with alopecia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Odonto onycho dysplasia with alopecia syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Odonto onycho dysplasia with alopecia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Odonto onycho dysplasia with alopecia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Odonto onycho dysplasia with alopecia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Odonto onycho dysplasia with alopecia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Odonto onycho dysplasia with alopecia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Odonto onycho dysplasia with alopecia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Odonto onycho dysplasia with alopecia syndrome Finding site Nail unit structure true Inferred relationship Some 1
Odonto onycho dysplasia with alopecia syndrome Associated morphology Dysplasia true Inferred relationship Some 4
Odonto onycho dysplasia with alopecia syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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