719471002: cleidorhizomelic syndrome (aandoening)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Cleidorhizomelic syndrome (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of shoulder region (disorder)\Congenital anomaly of shoulder (disorder)\Congenital anomaly of shoulder girdle (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of shoulder (disorder)\Congenital anomaly of shoulder girdle (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of shoulder (disorder)\Congenital anomaly of shoulder girdle (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Finding of clavicle structure\Cleidorhizomelic syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of shoulder region (disorder)\Congenital anomaly of shoulder (disorder)\Congenital anomaly of shoulder girdle (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of shoulder (disorder)\Congenital anomaly of shoulder girdle (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of shoulder region\Finding of clavicle structure\Cleidorhizomelic syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of shoulder region\Disorder of shoulder region (disorder)\Congenital anomaly of shoulder (disorder)\Congenital anomaly of shoulder girdle (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Cleidorhizomelic syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Cleidorhizomelic syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Finding of clavicle structure\Cleidorhizomelic syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Cleidorhizomelic syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Cleidorhizomelic syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Cleidorhizomelic syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Cleidorhizomelic syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Cleidorhizomelic syndrome (disorder)

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Finding of clavicle structure\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\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\Rhizomelic dysplasia (disorder)\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\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)

\Disease\Disorder of joint region\Disorder of shoulder region (disorder)\Congenital anomaly of shoulder (disorder)\Congenital anomaly of shoulder girdle (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of body wall\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of shoulder (disorder)\Congenital anomaly of shoulder girdle (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of body wall (disorder)\Congenital anomaly of body wall\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\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\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\Rhizomelic dysplasia (disorder)\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\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of shoulder region (disorder)\Congenital anomaly of shoulder (disorder)\Congenital anomaly of shoulder girdle (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of shoulder (disorder)\Congenital anomaly of shoulder girdle (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of shoulder (disorder)\Congenital anomaly of shoulder girdle (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Cleidorhizomelic syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of body wall\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of shoulder (disorder)\Congenital anomaly of shoulder girdle (disorder)\Congenital anomaly of bone of shoulder girdle (disorder)\Cleidorhizomelic syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\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

6258181000146111 syndroom van Wallis-Zieff-Goldblatt nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7879891000146117 cleidorhizomelic syndrome nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7879901000146116 cleidorhizomelic syndrome (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

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	false	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	congenitale dysplasie (afwijkende morfologie)	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	false	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	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	false	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Clinical course	Progressive (qualifier value)	false	Inferred relationship	Some	2
Cleidorhizomelic syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Interprets	Height / growth measure	false	Inferred relationship	Some	3
Cleidorhizomelic syndrome (disorder)	Interprets	Limb length	true	Inferred relationship	Some	2
Cleidorhizomelic syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Cleidorhizomelic syndrome (disorder)	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1
Cleidorhizomelic syndrome (disorder)	Is a	Rhizomelic dysplasia (disorder)	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Is a	Finding of clavicle structure	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Is a	Congenital anomaly of bone of shoulder girdle (disorder)	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	4
Cleidorhizomelic syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Cleidorhizomelic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Cleidorhizomelic syndrome (disorder)	Finding site	Bone structure of clavicle	true	Inferred relationship	Some	3
Cleidorhizomelic syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Cleidorhizomelic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Cleidorhizomelic syndrome (disorder)	Is a	Congenital anomaly of body wall	true	Inferred relationship	Some
Cleidorhizomelic syndrome (disorder)	Is a	Congenital anomaly of thorax	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
6258181000146111	syndroom van Wallis-Zieff-Goldblatt	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7879891000146117	cleidorhizomelic syndrome	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7879901000146116	cleidorhizomelic syndrome (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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