818959006: Trichorhinophalangeal syndrome type 1 and 3 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Trichorhinophalangeal syndrome type 1 and 3
• \Congenital anomaly of musculoskeletal system\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Developmental disorder\Developmental hereditary disorder\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Trichorhinophalangeal syndrome type 1 and 3
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trichorhinophalangeal syndrome\Trichorhinophalangeal syndrome type 1 and 3

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3856338012	Trichorhinophalangeal syndrome type 1 and 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3856339016	Trichorhinophalangeal syndrome type 1 and 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3856344011	Trichorhinophalangeal syndrome type I and III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3856340019	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.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3856341015	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 generalised 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.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408832010	A rare multiple congenital anomalies syndrome characterized by short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408833017	A rare multiple congenital anomalies syndrome characterised by short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

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

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