1197148005: Sanjad Sakati syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head and neck region\Head finding\Finding of head circumference\Microcephaly\Sanjad Sakati 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\Sanjad Sakati syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Sanjad Sakati syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Disorder of parathyroid gland\Hypoparathyroidism\Sanjad Sakati syndrome

\Functional finding\Decline in functional status\Decreased hormone secretion\Hypoparathyroidism\Sanjad Sakati syndrome
\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Sanjad Sakati syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Sanjad Sakati syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Sanjad Sakati syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Sanjad Sakati syndrome

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Sanjad Sakati syndrome

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

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

Descriptions:

Id Description Lang Type Status Case? Module

4695149015 Sanjad Sakati syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

4695150015 Richardson Kirk syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

4695151016 Hypoparathyroidism, short stature, intellectual disability, seizures syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4695152011 Hypoparathyroidism, intellectual disability, dysmorphism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4695153018 Sanjad Sakati syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

4695154012 SSS - Sanjad Sakati syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sanjad Sakati syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Sanjad Sakati syndrome	Is a	Microcephaly	true	Inferred relationship	Existential restriction modifier
Sanjad Sakati syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Sanjad Sakati syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Existential restriction modifier
Sanjad Sakati syndrome	Is a	Hypoparathyroidism	true	Inferred relationship	Existential restriction modifier
Sanjad Sakati syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Sanjad Sakati syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Sanjad Sakati syndrome	Interprets	Hormone secretion, function	true	Inferred relationship	Existential restriction modifier	3
Sanjad Sakati syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	3
Sanjad Sakati syndrome	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	4
Sanjad Sakati syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Sanjad Sakati syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Sanjad Sakati syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Sanjad Sakati syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Sanjad Sakati syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Sanjad Sakati syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Sanjad Sakati syndrome	Finding site	Parathyroid structure	true	Inferred relationship	Existential restriction modifier	2
Sanjad Sakati syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Sanjad Sakati syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Sanjad Sakati syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Sanjad Sakati syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	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	SNOMED CT core module
4695150015	Richardson Kirk syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4695151016	Hypoparathyroidism, short stature, intellectual disability, seizures syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4695152011	Hypoparathyroidism, intellectual disability, dysmorphism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4695153018	Sanjad Sakati syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4695154012	SSS - Sanjad Sakati syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module