721072003: Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature, pituitary and cerebellar defect and small sella turcica syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Hypoplasia of hypothalamus\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Hypoplasia of hypothalamus\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome

\Limbic disorder\Disorder of hypothalamus\...

\Hypoplasia of hypothalamus\Short stature, pituitary and cerebellar defect and small sella turcica syndrome

\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome

\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome

\Skull finding\Disorder of skull\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Hypoplasia of hypothalamus\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature, pituitary and cerebellar defect and small sella turcica syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Hypoplasia of hypothalamus\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Hypoplasia of hypothalamus\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Hypoplasia of hypothalamus\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Anterior pituitary hormone deficiency\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Short stature, pituitary and cerebellar defect and small sella turcica syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature, pituitary and cerebellar defect and small sella turcica syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3323360013 Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3323361012 Short stature, pituitary and cerebellar defect and small sella turcica syndrome en Synonym Active Case insensitive SNOMED CT core

3323362017 This syndrome has characteristics of short stature, anterior pituitary hormone deficiency, small sella turcica and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Finding site	Entire pituitary fossa	true	Inferred relationship	Some	1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Hypoplasia of hypothalamus	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Congenital anomaly of skull	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Congenital hypoplasia of part of brain	false	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Congenital malformation of anterior pituitary	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Anterior pituitary hormone deficiency	true	Inferred relationship	Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Finding site	Adenohypophysis structure	true	Inferred relationship	Some	2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Finding site	Entire pituitary fossa	false	Inferred relationship	Some	3
Short stature, pituitary and cerebellar defect and small sella turcica syndrome	Is a	Congenital hypoplasia of cerebrum	true	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
3323360013	Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323361012	Short stature, pituitary and cerebellar defect and small sella turcica syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323362017	This syndrome has characteristics of short stature, anterior pituitary hormone deficiency, small sella turcica and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).	en	Definition	Active	Case sensitive	SNOMED CT core