726670008: Weaver Williams syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Weaver Williams syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Orofacial cleft\Cleft palate\Weaver Williams syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Weaver Williams syndrome
\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Weaver Williams syndrome

\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Weaver Williams syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Weaver Williams syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Weaver Williams syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Weaver Williams syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Weaver Williams syndrome

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

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

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3464489015 Weaver Williams syndrome en Synonym Active Case sensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Weaver Williams syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Weaver Williams syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Weaver Williams syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Weaver Williams syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Weaver Williams syndrome	Finding site	Palatal structure	true	Inferred relationship	Some	1
Weaver Williams syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	1
Weaver Williams syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Weaver Williams syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	3
Weaver Williams syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	3
Weaver Williams syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Weaver Williams syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Weaver Williams syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Weaver Williams syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Weaver Williams syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Weaver Williams syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Weaver Williams syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Weaver Williams syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Weaver Williams syndrome	Is a	Cleft palate	true	Inferred relationship	Some
Weaver Williams syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Weaver Williams syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Weaver Williams syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Weaver Williams syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Weaver Williams syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Weaver Williams syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	2
Weaver Williams syndrome	Finding site	Palatal structure	false	Inferred relationship	Some	2
Weaver Williams syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Weaver Williams syndrome	Finding site	Face structure	false	Inferred relationship	Some	3
Weaver Williams syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3464488011	Weaver Williams syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3464489015	Weaver Williams syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core