1197148005: Sanjad Sakati syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Sanjad Sakati syndrome (disorder)

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Sanjad Sakati syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Sanjad Sakati syndrome (disorder)
\Finding of head and neck region\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)
\Finding of head and neck region\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\Sanjad Sakati syndrome (disorder)
\Finding of head and neck region\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\Sanjad Sakati syndrome (disorder)
\Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Sanjad Sakati syndrome (disorder)

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\Sanjad Sakati syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Sanjad Sakati syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Sanjad Sakati syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Sanjad Sakati syndrome (disorder)

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Sanjad Sakati syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Sanjad Sakati syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Sanjad Sakati syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanjad Sakati syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Sanjad Sakati syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Sanjad Sakati syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Sanjad Sakati syndrome (disorder)
\Disease\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Sanjad Sakati syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome (disorder)
\Disease\Congenital disease (disorder)\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\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Sanjad Sakati syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Sanjad Sakati syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome (disorder)
\Disease\Developmental disorder\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

5616011000052113 Sanjad-Sakatis syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
5616011000052113	Sanjad-Sakatis syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)