773282001: Macrosomia, microphthalmia, cleft palate syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Macrosomia, microphthalmia, cleft palate syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Macrosomia, microphthalmia, cleft palate syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3722889019	Macrosomia, microphthalmia, cleft palate syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3722890011	Teebi Al Saleh Hassoon syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3722891010	Macrosomia, microphthalmia, cleft palate syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3722892015	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.	en	Definition	Active	Case sensitive	SNOMED CT core
3722893013	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apnoeic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.	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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