715482004: nanisme microcéphalique primordial type Toriello (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Primordial dwarfism\Microcephalic primordial dwarfism of Toriello type (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism of Toriello type (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism of Toriello type (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\...
• \Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Primordial dwarfism\Microcephalic primordial dwarfism of Toriello type (disorder)
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism of Toriello type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Microcephalic primordial dwarfism of Toriello type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic primordial dwarfism of Toriello type (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism of Toriello type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Microcephalic primordial dwarfism of Toriello type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism of Toriello type (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Microcephalic primordial dwarfism of Toriello type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Microcephalic primordial dwarfism of Toriello type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism of Toriello type (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Primordial dwarfism\Microcephalic primordial dwarfism of Toriello type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302775019	Microcephalic primordial dwarfism of Toriello type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302776018	Microcephalic primordial dwarfism of Toriello type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302778017	Microcephalic primordial dwarfism Toriello type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
747631000241111	nanisme microcéphalique primordial type Toriello (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
999531000172113	nanisme microcéphalique primordial type Toriello	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3302777010	Growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. 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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