766032007: Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Hartsfield syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\holoprosencéphalie (trouble)\Hartsfield syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Hartsfield syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Hartsfield syndrome
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Disease\affection de la tête\Congenital anomaly of head\holoprosencéphalie (trouble)\Hartsfield syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\holoprosencéphalie (trouble)\Hartsfield syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Hartsfield syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\holoprosencéphalie (trouble)\Hartsfield syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Hartsfield syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\holoprosencéphalie (trouble)\Hartsfield syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Hartsfield syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\holoprosencéphalie (trouble)\Hartsfield syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Hartsfield syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3660451013	Hartsfield syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3660452018	Hartsfield Bixler Demyer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3660453011	Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3660454017	Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3660582014	A rare disease with characteristics of holoprosencephaly and ectrodactyly. Holoprosencephaly occurs during early fetal development with failure of the brain to divide into the left and right hemisphere. In the most severe forms of holoprosencephaly, the brain does not divide at all. These affected individuals have cyclopia and proboscis located above the eye. Most babies with severe holoprosencephaly die before birth or soon after. Other manifestations include malfunctioning pituitary, seizures, feeding difficulties, developmental delay and problems regulating body temperature and sleep pattern. Some affected individuals have distinctive facial features, including hypertelorism, hypotelorism, cleft lip, cleft palate. Can be caused by mutations in the FGFR1 gene.	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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