722210007: Parastremmatic dwarfism (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metatropic dysplasia\Parastremmatic dwarfism (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metatropic dysplasia\Parastremmatic dwarfism (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Parastremmatic dwarfism (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Parastremmatic dwarfism (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Parastremmatic dwarfism (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Parastremmatic dwarfism (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Parastremmatic dwarfism (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Parastremmatic dwarfism (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Parastremmatic dwarfism (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metatropic dysplasia\Parastremmatic dwarfism (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331159012 Parastremmatic dwarfism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331160019 Parastremmatic dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331165012 Parastremmatic dwarfism is a very rare chondrodysplasia with characteristics of severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

893871000172117 nanisme parastremmatique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Parastremmatic dwarfism (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Parastremmatic dwarfism (disorder)	Is a	Metatropic dysplasia	true	Inferred relationship	Some
Parastremmatic dwarfism (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Parastremmatic dwarfism (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Parastremmatic dwarfism (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Parastremmatic dwarfism (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Parastremmatic dwarfism (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Parastremmatic dwarfism (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Parastremmatic dwarfism (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Parastremmatic dwarfism (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Parastremmatic dwarfism (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Parastremmatic dwarfism (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Parastremmatic dwarfism (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Parastremmatic dwarfism (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331159012	Parastremmatic dwarfism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331160019	Parastremmatic dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331165012	Parastremmatic dwarfism is a very rare chondrodysplasia with characteristics of severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
893871000172117	nanisme parastremmatique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module