1197148005: Sanjad Sakati syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Sanjad Sakati syndrome (disorder)
• \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\Sanjad Sakati syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\affection de la glande parathyroïde (trouble)\hypoparathyroïdie\Sanjad Sakati syndrome (disorder)
• \constatation fonctionnelle\Decline in functional status (finding)\Decreased hormone secretion\hypoparathyroïdie\Sanjad Sakati syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Sanjad Sakati syndrome (disorder)
• \Endocrine finding\Decreased hormone secretion\hypoparathyroïdie\Sanjad Sakati syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Sanjad Sakati syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Sanjad Sakati syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanjad Sakati syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Sanjad Sakati syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Sanjad Sakati syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\affection de la glande parathyroïde (trouble)\hypoparathyroïdie\Sanjad Sakati syndrome (disorder)
• \Disease\affection du cou\affection de la glande parathyroïde (trouble)\hypoparathyroïdie\Sanjad Sakati syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Sanjad Sakati syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Sanjad Sakati syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Sanjad Sakati syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4695149015	Sanjad Sakati syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4695150015	Richardson Kirk syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4695151016	Hypoparathyroidism, short stature, intellectual disability, seizures syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695152011	Hypoparathyroidism, intellectual disability, dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695153018	Sanjad Sakati syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4695154012	SSS - Sanjad Sakati syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4695155013	A rare multiple congenital anomaly syndrome mainly occurring in the Middle East and the Arabian Gulf countries, with characteristics of intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism, severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia) and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start