1367655003: Phosphoribosylaminoimidazole carboxylase deficiency disorder (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\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \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\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \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\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Inborn error of metabolism\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5464035011	Phosphoribosylaminoimidazole carboxylase deficiency disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5464036012	PAICS (phosphoribosylaminoimidazole carboxylase) deficiency disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5464037015	Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5464038013	PAICS deficiency disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5464039017	A rare disorder of purine metabolism characterised by multiple congenital anomalies/dysmorphic features including craniofacial dysmorphism especially of the midface with flat face, low set ears, nasal hypoplasia, low nasal bridge, choanal atresia/stenosis and hypertelorism. Other malformations include oesophageal atresia with or without tracheo-oesophageal fistula, as well as malformations of ribs, lungs, vertebrae, legs, toes and fingers.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5464040015	A rare disorder of purine metabolism characterized by multiple congenital anomalies/dysmorphic features including craniofacial dysmorphism especially of the midface with flat face, low set ears, nasal hypoplasia, low nasal bridge, choanal atresia/stenosis and hypertelorism. Other malformations include esophageal atresia with or without tracheoesophageal fistula, as well as malformations of ribs, lungs, vertebrae, legs, toes and fingers.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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