723309006: syndrome endocrino-cérébro-ostéodysplasique (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia 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\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia 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\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia 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)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia 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\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Endocrine-cerebro-osteodysplasia 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\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia 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\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia 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\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia 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\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia 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\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia 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\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Endocrine-cerebro-osteodysplasia 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\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia 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\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia 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
3424008018	Endocrine-cerebro-osteodysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424009014	Endocrine-cerebro-osteodysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424010016	ECO syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424011017	ECO (endocrine-cerebro-osteodysplasia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424012012	Endocrine cerebroosteodysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
759031000241111	syndrome endocrino-cérébro-ostéodysplasique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
951971000172112	syndrome ECO (endocrino-cérébro-ostéodysplasique)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
956871000172112	syndrome endocrino-cérébro-ostéodysplasique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3424013019	Syndrome with characteristics of various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Six cases from consanguineous parents have been described. Endocrine anomalies include hypoplasia of the adrenal and pituitary glands. Skeletal anomalies include micromelia, syndactyly, brachydactyly and ulnar deviation of hands. Facial anomalies, such as midface hypoplasia, micrognathia, and a flat and wide nasal bridge, are also observed. The disease is caused by mutations in the ICK gene, encoding an intestinal cell kinase. Transmission is autosomal recessive.	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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