724067006: Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome

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

\Finding of brain\Encephalopathy\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome

\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function\Neonatal diabetes mellitus\Permanent neonatal diabetes mellitus\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function\Neonatal diabetes mellitus\Permanent neonatal diabetes mellitus\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3481742011 Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3481743018 Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome en Synonym Active Case insensitive SNOMED CT core

3481744012 Pancreatic and cerebellar agenesis syndrome en Synonym Active Case insensitive SNOMED CT core

3481745013 This syndrome has characteristics of neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani family, and one unrelated case (also born to consanguineous parents). Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat and optic nerve hypoplasia. One of the patients had pancreatic agenesis and the others were suspected of having pancreatic hypoplasia. The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations in the PTF1A gene (10p12.3). Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation. All patients died in the neonatal period. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Finding site	Structure of endocrine system	true	Inferred relationship	Some	3
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Finding site	Entire cerebellum	true	Inferred relationship	Some	2
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Associated morphology	Agenesis	true	Inferred relationship	Some	2
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Is a	Agenesis of cerebellum	true	Inferred relationship	Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Is a	Permanent neonatal diabetes mellitus	true	Inferred relationship	Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Occurrence	Infancy	true	Inferred relationship	Some	4
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Finding site	Face structure	false	Inferred relationship	Some	5
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Finding site	Structure of endocrine system	false	Inferred relationship	Some	4
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	6
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	Finding site	Entire cerebellum	false	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3481742011	Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3481743018	Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3481744012	Pancreatic and cerebellar agenesis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3481745013	This syndrome has characteristics of neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani family, and one unrelated case (also born to consanguineous parents). Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat and optic nerve hypoplasia. One of the patients had pancreatic agenesis and the others were suspected of having pancreatic hypoplasia. The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations in the PTF1A gene (10p12.3). Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation. All patients died in the neonatal period.	en	Definition	Active	Case sensitive	SNOMED CT core