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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Tall stature, intellectual disability, renal anomalies syndrome
• \Finding of general physiological development\Disorder of stature\Tall stature, intellectual disability, renal anomalies syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Tall stature, intellectual disability, renal anomalies syndrome
• \Functional finding\Cognitive function 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
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\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 head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\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 anomaly\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\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\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, Primitive. 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	Active	Case insensitive	SNOMED CT core
4607797012	Thauvin Robinet Faivre syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4607798019	Tall stature, intellectual disability, renal anomalies syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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