725434009: Autosomal recessive faciodigitogenital syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\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\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Head finding (finding)\Disorder of head (disorder)\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\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Head finding (finding)\Disorder of head (disorder)\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\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Finding of limb structure\Disorder of limb (disorder)\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Fetal and/or neonatal disorder\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\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Disorder of body system\Hereditary disorder by system\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Disorder of head (disorder)\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\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Disorder of head (disorder)\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\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Developmental disorder\Developmental hereditary disorder\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Developmental disorder\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\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.

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
5403477019	A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442892016	Autosomal recessive faciodigitogenital syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442893014	Autosomal recessive facio-digito-genital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442894015	Aarskog-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442895019	Autosomal recessive faciodigitogenital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442896018	Facio-digito-genital syndrome Kuwait type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3442897010	Teebi Naguib Alawadi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
874351000172112	syndrome d'Aarskog-like	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
985391000172119	syndrome faciodigitogénital autosomique récessif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3421341001000111	Fazio-digito-genitales Syndrom, autosomal-rezessive Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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