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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\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)
• \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\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \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\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \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\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\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)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\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)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus (disorder)\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus (disorder)\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\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 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\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 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\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)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus (disorder)\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus (disorder)\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \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 (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus (disorder)\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus (disorder)\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (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 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (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 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus (disorder)\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus (disorder)\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\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 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\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 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\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)
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\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\Disorder of head (disorder)\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)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of head (disorder)\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)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\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)
• \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 (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus (disorder)\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus (disorder)\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\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 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\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 (disorder)
• \Disease\Developmental disorder\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\Developmental disorder\Congenital malformation\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)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\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)

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
5403210011	A rare neurologic disease characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. 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. The disease is lethal in the neonatal period.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403211010	A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. 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. The disease is lethal in the neonatal period.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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