1230295000: B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower extremity\Disorder of free lower limb\Disorder of foot\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower extremity\Congenital anomaly of lower limb\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity\Disorder of free lower limb\Disorder of foot\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity\Congenital anomaly of lower limb\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Genetic disease\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital agammaglobulinemia\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of extremity\Disorder of lower extremity\Disorder of free lower limb\Disorder of foot\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of extremity\Disorder of lower extremity\Congenital anomaly of lower limb\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Congenital disease\Congenital immunodeficiency disease\Congenital agammaglobulinemia\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital abnormality of foot and toes\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Jun 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5068781011	B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
5068782016	BILU (B-cell immunodeficiency, limb, urogenital) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5068783014	B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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