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\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\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 (disorder)\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 (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\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 (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\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 (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\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 (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\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 (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\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 (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\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 (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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\Congenital malformation\Congenital malformation syndrome\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\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function (disorder)\Neonatal diabetes mellitus\Permanent neonatal diabetes mellitus (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\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 (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\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 (disorder)\Neonatal diabetes mellitus\Permanent neonatal diabetes mellitus (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\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 (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder (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 (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aplasia of cerebellum\Agenesis of cerebellum (disorder)\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
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
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
3393871001000111	Diabetes mellitus, permanenter neonataler - Pankreas- und Kleinhirnagenesie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6445841000241119	syndrome de diabète sucré néonatal permanent et agénésie du cervelet et du pancréas	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6445851000241116	syndrome d'agénésie pancréatique et cérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6445841000241119	syndrome de diabète sucré néonatal permanent et agénésie du cervelet et du pancréas	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6445851000241116	syndrome d'agénésie pancréatique et cérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393871001000111	Diabetes mellitus, permanenter neonataler - Pankreas- und Kleinhirnagenesie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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