1169359006: Tall stature, intellectual disability, renal anomalies syndrome (disorder)

• 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\Intelligenzminderung\Tall stature, intellectual disability, renal anomalies syndrome
• \Body measurement finding\Height / growth finding\General finding of height (finding)\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)\Intelligenzminderung\Tall stature, intellectual disability, renal anomalies syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Tall stature, intellectual disability, renal anomalies syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\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\Congenital malformation\Congenital malformation syndrome\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\Congenital malformation\Congenital malformation syndrome\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\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 (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Developmental disorder (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)\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:

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
5399310016	A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399311017	A rare overgrowth syndrome associated with multiple congenital anomalies characterised by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
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
5399310016	A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399311017	A rare overgrowth syndrome associated with multiple congenital anomalies characterised by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3418501001000117	Hochwuchs-Intelligenzminderung-renale Anomalien-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3418501001000117	Hochwuchs-Intelligenzminderung-renale Anomalien-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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