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

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\...
• \Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Holoprosencephaly sequence\Hartsfield syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hartsfield syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hartsfield syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Holoprosencephaly sequence\Hartsfield syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Hartsfield syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Hartsfield syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Holoprosencephaly sequence\Hartsfield syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Hartsfield syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Hartsfield syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Hartsfield syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Holoprosencephaly sequence\Hartsfield syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Hartsfield syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Hartsfield syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3660451013	Hartsfield syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3660452018	Hartsfield Bixler Demyer syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3660453011	Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3660454017	Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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