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1197148005: Sanjad Sakati syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
4695150015 Richardson Kirk syndrome en Synonym Active Case sensitive SNOMED CT core
4695151016 Hypoparathyroidism, short stature, intellectual disability, seizures syndrome en Synonym Active Case insensitive SNOMED CT core
4695152011 Hypoparathyroidism, intellectual disability, dysmorphism syndrome en Synonym Active Case insensitive SNOMED CT core
4695153018 Sanjad Sakati syndrome en Synonym Active Case sensitive SNOMED CT core
4695154012 SSS - Sanjad Sakati syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sanjad Sakati syndrome Is a Intellectual disability true Inferred relationship Some
Sanjad Sakati syndrome Is a Microcephaly true Inferred relationship Some
Sanjad Sakati syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Sanjad Sakati syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Some
Sanjad Sakati syndrome Is a Hypoparathyroidism true Inferred relationship Some
Sanjad Sakati syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Sanjad Sakati syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Sanjad Sakati syndrome Interprets Hormone secretion true Inferred relationship Some 3
Sanjad Sakati syndrome Has interpretation Decreased true Inferred relationship Some 3
Sanjad Sakati syndrome Interprets Head circumference true Inferred relationship Some 4
Sanjad Sakati syndrome Has interpretation Below reference range true Inferred relationship Some 4
Sanjad Sakati syndrome Occurrence Congenital true Inferred relationship Some 1
Sanjad Sakati syndrome Finding site Face structure true Inferred relationship Some 1
Sanjad Sakati syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Sanjad Sakati syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Sanjad Sakati syndrome Occurrence Congenital true Inferred relationship Some 2
Sanjad Sakati syndrome Finding site Parathyroid structure true Inferred relationship Some 2
Sanjad Sakati syndrome Interprets Intellectual ability true Inferred relationship Some 5
Sanjad Sakati syndrome Has interpretation Impaired true Inferred relationship Some 5
Sanjad Sakati syndrome Interprets Adaptation behaviour true Inferred relationship Some 6
Sanjad Sakati syndrome Has interpretation Impaired true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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