1169359006: syndroom van lange gestalte, verstandelijke beperking en nierafwijking (aandoening)

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

\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\Tall stature, intellectual disability, renal anomalies syndrome
\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\Tall stature, intellectual disability, renal anomalies syndrome
\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\Tall stature, intellectual disability, renal anomalies syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Tall stature, intellectual disability, renal anomalies syndrome

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Tall stature, intellectual disability, renal anomalies syndrome

\Finding of general physiological development\Disorder of stature\Tall stature, intellectual disability, renal anomalies syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Tall stature, intellectual disability, renal anomalies syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Tall stature, intellectual disability, renal anomalies syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Tall stature, intellectual disability, renal anomalies syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Tall stature, intellectual disability, renal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tall stature, intellectual disability, renal anomalies syndrome
\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\Tall stature, intellectual disability, renal anomalies syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Tall stature, intellectual disability, renal anomalies syndrome
\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\Tall stature, intellectual disability, renal anomalies syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Tall stature, intellectual disability, renal anomalies syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Tall stature, intellectual disability, renal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Tall stature, intellectual disability, renal anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
\Disease\Developmental disorder\Disorder of stature\Tall stature, intellectual disability, renal anomalies syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tall stature, intellectual disability, renal anomalies syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Tall stature, intellectual disability, renal anomalies syndrome	Is a	Disorder of stature	true	Inferred relationship	Some
Tall stature, intellectual disability, renal anomalies syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Tall stature, intellectual disability, renal anomalies syndrome	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
Tall stature, intellectual disability, renal anomalies syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Tall stature, intellectual disability, renal anomalies syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Tall stature, intellectual disability, renal anomalies syndrome	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	2
Tall stature, intellectual disability, renal anomalies syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Tall stature, intellectual disability, renal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Tall stature, intellectual disability, renal anomalies syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Tall stature, intellectual disability, renal anomalies syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Tall stature, intellectual disability, renal anomalies syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Tall stature, intellectual disability, renal anomalies syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Tall stature, intellectual disability, renal anomalies syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Tall stature, intellectual disability, renal anomalies syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Tall stature, intellectual disability, renal anomalies syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4

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
4607796015	Tall stature, intellectual disability, renal anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4607797012	Thauvin Robinet Faivre syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4607798019	Tall stature, intellectual disability, renal anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13120411000146117	syndroom van lange gestalte, verstandelijke beperking en nierafwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13120421000146110	syndroom van lange gestalte, mentale retardatie en nierafwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13120431000146112	syndroom van Thauvin-Robinet-Faivre	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13120441000146116	syndroom van lange gestalte, verstandelijke handicap en renale anomalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13120451000146118	syndroom van lange gestalte, verstandelijke beperking en nierafwijking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13302851000146116	Thauvin-Robinet-Faivre-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4607799010	A rare overgrowth syndrome associated with multiple congenital anomalies with characteristics of tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism. Biallelic loss of function variants in FIBP (11q13.1) are responsible for this phenotype. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core