726670008: Weaver-Williams-syndroom (aandoening)

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

\Head finding (finding)\Finding of head region\Orofacial cleft (disorder)\Cleft palate\Weaver Williams syndrome (disorder)
\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\Weaver Williams syndrome (disorder)
\Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Weaver Williams syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Weaver Williams syndrome (disorder)
\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\Weaver Williams syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Weaver Williams syndrome (disorder)
\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\Weaver Williams syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Weaver Williams syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Weaver Williams syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Weaver Williams syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Weaver Williams syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Weaver Williams syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Weaver Williams syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Weaver Williams syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Weaver Williams syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Weaver Williams syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Weaver Williams syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Weaver Williams syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Weaver Williams syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Weaver Williams syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Weaver Williams syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Weaver Williams syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Weaver Williams syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Weaver Williams syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Weaver Williams syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Weaver Williams syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Weaver Williams syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Weaver Williams syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Weaver Williams syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3464488011 Weaver Williams syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3464489015 Weaver Williams syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6862891000146119 syndroom van Weaver-Williams nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10672931000146116 Weaver-Williams-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10672941000146112 Weaver-Williams-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3464490012 A multiple congenital anomalies syndrome with characteristics of moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and general bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. 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
Weaver Williams syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Weaver Williams syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Weaver Williams syndrome (disorder)	Is a	Cleft palate	true	Inferred relationship	Some
Weaver Williams syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Weaver Williams syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Weaver Williams syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Weaver Williams syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Weaver Williams syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Weaver Williams syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	2
Weaver Williams syndrome (disorder)	Finding site	Palatal structure	false	Inferred relationship	Some	2
Weaver Williams syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Weaver Williams syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	3
Weaver Williams syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Weaver Williams syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Weaver Williams syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Weaver Williams syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Weaver Williams syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Weaver Williams syndrome (disorder)	Finding site	Palatal structure	true	Inferred relationship	Some	1
Weaver Williams syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Weaver Williams syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Weaver Williams syndrome (disorder)	Finding site	Bone structure of head	false	Inferred relationship	Some	3
Weaver Williams syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	3
Weaver Williams syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Weaver Williams syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Weaver Williams syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Weaver Williams syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Weaver Williams syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Weaver Williams syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

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
3464488011	Weaver Williams syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3464489015	Weaver Williams syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6862891000146119	syndroom van Weaver-Williams	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672931000146116	Weaver-Williams-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672941000146112	Weaver-Williams-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3464490012	A multiple congenital anomalies syndrome with characteristics of moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and general bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core