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18077009: Trichorhinophalangeal syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
30539015 Trichorhinophalangeal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
745453014 Trichorhinophalangeal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1193681000005111 Trikorinofalangealt syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Trichorhinophalangeal syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Trichorhinophalangeal syndrome Is a Ectodermal dysplasia with hair-tooth-nail defects false Inferred relationship Some
Trichorhinophalangeal syndrome Is a Acromesomelic dysplasia syndrome false Inferred relationship Some
Trichorhinophalangeal syndrome Occurrence Congenital false Inferred relationship Some
Trichorhinophalangeal syndrome Finding site Skeletal system structure false Inferred relationship Some 1
Trichorhinophalangeal syndrome Finding site Bone structure false Inferred relationship Some 1
Trichorhinophalangeal syndrome Finding site Skin structure false Inferred relationship Some 1
Trichorhinophalangeal syndrome Associated morphology dysgenese false Inferred relationship Some
Trichorhinophalangeal syndrome Finding site Musculoskeletal structure of limb false Inferred relationship Some 3
Trichorhinophalangeal syndrome Associated morphology Dysplasia false Inferred relationship Some 1
Trichorhinophalangeal syndrome Finding site Limb structure false Inferred relationship Some 2
Trichorhinophalangeal syndrome Associated morphology kongenit anomali false Inferred relationship Some 1
Trichorhinophalangeal syndrome Associated morphology kongenit dysplasi false Inferred relationship Some 1
Trichorhinophalangeal syndrome Associated morphology Kongenit malformation false Inferred relationship Some 3
Trichorhinophalangeal syndrome Is a Disorder of soft tissue of limb false Inferred relationship Some
Trichorhinophalangeal syndrome Finding site Bone structure false Inferred relationship Some 1
Trichorhinophalangeal syndrome Associated morphology Kongenit malformation false Inferred relationship Some 1
Trichorhinophalangeal syndrome Finding site Musculoskeletal structure of limb false Inferred relationship Some 3
Trichorhinophalangeal syndrome Finding site Skin structure false Inferred relationship Some 1
Trichorhinophalangeal syndrome Associated morphology kongenit dysplasi false Inferred relationship Some 1
Trichorhinophalangeal syndrome Associated morphology Kongenit malformation false Inferred relationship Some 1
Trichorhinophalangeal syndrome Finding site Limb structure false Inferred relationship Some 1
Trichorhinophalangeal syndrome Finding site Limb structure false Inferred relationship Some 1
Trichorhinophalangeal syndrome Occurrence Congenital true Inferred relationship Some 2
Trichorhinophalangeal syndrome Associated morphology dysgenese false Inferred relationship Some 2
Trichorhinophalangeal syndrome Occurrence Congenital false Inferred relationship Some 3
Trichorhinophalangeal syndrome Associated morphology dysgenese false Inferred relationship Some 3
Trichorhinophalangeal syndrome Finding site Limb structure true Inferred relationship Some 2
Trichorhinophalangeal syndrome Finding site Face structure false Inferred relationship Some 3
Trichorhinophalangeal syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Trichorhinophalangeal syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Trichorhinophalangeal syndrome Finding site Face structure true Inferred relationship Some 1
Trichorhinophalangeal syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Trichorhinophalangeal syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Trichorhinophalangeal syndrome Occurrence Congenital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Trichorhinophalangeal dysplasia type I Is a True Trichorhinophalangeal syndrome Inferred relationship Some
Langer-Giedion syndrome Is a True Trichorhinophalangeal syndrome Inferred relationship Some
Trichorhinophalangeal dysplasia type III (disorder) Is a True Trichorhinophalangeal syndrome Inferred relationship Some
Trichorhinophalangeal syndromes (TRPS) type 1 and 3 has characteristics of short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Transmission is autosomal dominant. Is a True Trichorhinophalangeal syndrome Inferred relationship Some

This concept is not in any reference sets

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