719471002: Cleidorhizomelic syndrome (disorder)

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

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Cleidorhizomelic syndrome (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\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cleidorhizomelic syndrome (disorder)

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

3316466014 Cleidorhizomelic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316467017 Cleidorhizomelic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316468010 Rhizomelic shortness with clavicular defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316469019 Wallis Zieff Goldblatt syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3316470018 A rhizo-mesomelic dysplasia with characteristics of rhizomelic short stature in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. The syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3917031000052113 kleidorizomeliskt syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cleidorhizomelic syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Cleidorhizomelic syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Cleidorhizomelic syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Cleidorhizomelic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Cleidorhizomelic syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	3

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
3316466014	Cleidorhizomelic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316467017	Cleidorhizomelic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316468010	Rhizomelic shortness with clavicular defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316469019	Wallis Zieff Goldblatt syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316470018	A rhizo-mesomelic dysplasia with characteristics of rhizomelic short stature in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. The syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3917031000052113	kleidorizomeliskt syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)