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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\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 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \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\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function\diabète néonatal (trouble)\Permanent neonatal diabetes mellitus (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (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 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\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 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\trouble métabolique\Disorder of carbohydrate metabolism\trouble du métabolisme du glucose\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function\diabète néonatal (trouble)\Permanent neonatal diabetes mellitus (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\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 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\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 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481743018	Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481744012	Pancreatic and cerebellar agenesis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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