723405001: Microlissencephaly micromelia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\...

\Micromelia\Microlissencephaly micromelia syndrome

\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Microlissencephaly micromelia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Microlissencephaly micromelia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microlissencephaly micromelia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microlissencephaly micromelia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Microlissencephaly micromelia syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Microlissencephaly micromelia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Micromelia\Microlissencephaly micromelia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Micromelia\Microlissencephaly micromelia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microlissencephaly micromelia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Microlissencephaly micromelia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Micromelia\Microlissencephaly micromelia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microlissencephaly micromelia syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3424449010 Microlissencephaly micromelia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3424450010 Microlissencephaly micromelia syndrome en Synonym Active Case insensitive SNOMED CT core

3424451014 Basel Vanagaite Sirota syndrome en Synonym Active Case sensitive SNOMED CT core

3424452019 A syndrome of abnormal cortical development with characteristics of severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microlissencephaly micromelia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Microlissencephaly micromelia syndrome	Finding site	Entire limb	true	Inferred relationship	Some	1
Microlissencephaly micromelia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Microlissencephaly micromelia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Microlissencephaly micromelia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Microlissencephaly micromelia syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Microlissencephaly micromelia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Microlissencephaly micromelia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Microlissencephaly micromelia syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Microlissencephaly micromelia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Microlissencephaly micromelia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microlissencephaly micromelia syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Microlissencephaly micromelia syndrome	Is a	Micromelia	true	Inferred relationship	Some
Microlissencephaly micromelia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microlissencephaly micromelia syndrome	Is a	Lissencephaly	true	Inferred relationship	Some
Microlissencephaly micromelia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Microlissencephaly micromelia syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	4
Microlissencephaly micromelia syndrome	Finding site	Brain structure	false	Inferred relationship	Some	4
Microlissencephaly micromelia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Microlissencephaly micromelia syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Microlissencephaly micromelia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Microlissencephaly micromelia syndrome	Finding site	Face structure	false	Inferred relationship	Some	6
Microlissencephaly micromelia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Microlissencephaly micromelia syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Microlissencephaly micromelia syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	7
Microlissencephaly micromelia syndrome	Finding site	Entire limb	false	Inferred relationship	Some	7
Microlissencephaly micromelia syndrome	Finding site	Structure of central nervous system	false	Inferred relationship	Some	5
Microlissencephaly micromelia syndrome	Finding site	Brain structure	true	Inferred relationship	Some	3
Microlissencephaly micromelia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424449010	Microlissencephaly micromelia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424450010	Microlissencephaly micromelia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424451014	Basel Vanagaite Sirota syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424452019	A syndrome of abnormal cortical development with characteristics of severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	en	Definition	Active	Case sensitive	SNOMED CT core