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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\Tall stature, intellectual disability, renal anomalies syndrome
• \constatation à propos d'une région de la tête et du cou\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
• \affection de la tête\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
• \affection de la tête\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
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\affection de la tête\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\affection de la tête\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\trouble mental\troubles mentaux du développement\Intellectual disability\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with early overgrowth (disorder)\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\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\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with early overgrowth (disorder)\Tall stature, intellectual disability, renal anomalies syndrome
• \Disease\trouble du développement\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\trouble du développement\anomalie staturale\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
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

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

REFERS TO concept association reference set

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